Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913459
rs121913459
25 0.672 0.160 9 130872896 missense variant C/T snv 0.800 0.943 105 2001 2020
dbSNP: rs4795519
rs4795519
1 1.000 0.080 17 27214252 intergenic variant A/C snv 0.43 0.800 1.000 1 2011 2011
dbSNP: rs121913452
rs121913452
4 0.851 0.080 9 130873027 missense variant T/A;C;G snv 0.740 1.000 14 2003 2014
dbSNP: rs121913448
rs121913448
5 0.827 0.120 9 130862976 missense variant G/A snv 0.730 1.000 18 2001 2014
dbSNP: rs1057519771
rs1057519771
2 1.000 0.080 9 130872201 missense variant G/C snv 0.730 1.000 4 2009 2019
dbSNP: rs387906517
rs387906517
6 0.827 0.120 9 130862919 missense variant G/A snv 0.730 1.000 4 2006 2013
dbSNP: rs121913460
rs121913460
2 0.925 0.080 9 130862971 missense variant A/T snv 0.720 1.000 6 2002 2014
dbSNP: rs121913457
rs121913457
1 1.000 0.080 9 130873004 missense variant T/C snv 0.710 1.000 15 2002 2014
dbSNP: rs121913451
rs121913451
4 0.851 0.160 9 130872903 missense variant C/A;G snv 0.710 1.000 12 2002 2014
dbSNP: rs121913456
rs121913456
1 1.000 0.080 9 130862943 missense variant A/G snv 0.710 1.000 10 2002 2014
dbSNP: rs121913454
rs121913454
2 0.925 0.080 9 130874969 missense variant A/G snv 0.710 1.000 8 2002 2016
dbSNP: rs1057519773
rs1057519773
4 0.851 0.160 9 130872901 missense variant T/A;C;G snv 0.710 1.000 2 2008 2011
dbSNP: rs121913461
rs121913461
5 0.851 0.120 9 130862970 missense variant T/C snv 0.700 1.000 16 2002 2014
dbSNP: rs121913449
rs121913449
1 1.000 0.080 9 130862977 missense variant A/T snv 0.700 1.000 10 2001 2014
dbSNP: rs121913450
rs121913450
1 1.000 0.080 9 130873016 missense variant A/G snv 0.700 1.000 8 2002 2014
dbSNP: rs121913453
rs121913453
1 1.000 0.080 9 130862962 missense variant G/A snv 0.700 1.000 8 2002 2014
dbSNP: rs121913455
rs121913455
1 1.000 0.080 9 130862955 missense variant C/G snv 0.700 1.000 6 2003 2014
dbSNP: rs121913458
rs121913458
1 1.000 0.080 9 130862969 missense variant G/C;T snv 0.700 1.000 6 2002 2014
dbSNP: rs1057519758
rs1057519758
1 1.000 0.080 9 130872153 missense variant T/G snv 0.700 1.000 5 2004 2014
dbSNP: rs121913250
rs121913250
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 2 2012 2014
dbSNP: rs121913370
rs121913370
10 0.763 0.360 7 140753393 missense variant T/C;G snv 0.700 1.000 2 2014 2014
dbSNP: rs267607040
rs267607040
5 0.851 0.320 18 44951948 missense variant G/A snv 0.700 1.000 2 2013 2014
dbSNP: rs1057519772
rs1057519772
1 1.000 0.080 9 130872895 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519774
rs1057519774
1 1.000 0.080 9 130872902 missense variant T/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519775
rs1057519775
1 1.000 0.080 9 130873028 missense variant T/G snv 0.700 1.000 1 2011 2011